{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T00:23:39Z","timestamp":1755217419198,"version":"3.43.0"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T00:00:00Z","timestamp":1753056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP20K06910","JP16H06277"],"award-info":[{"award-number":["JP20K06910","JP16H06277"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21wm0425018","JP20dm017106","JP21wm0425019"],"award-info":[{"award-number":["JP21wm0425018","JP20dm017106","JP21wm0425019"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Multiplication of the \u03b1\u2010synuclein gene (<jats:italic>SNCA<\/jats:italic>) can cause familial Parkinson's disease (PD). In the present study, we investigated the neuropathological and biochemical profiles in the central and peripheral nervous systems of an autopsy case with <jats:italic>SNCA<\/jats:italic> duplication. The patient began to show gait disturbance and resting tremors at the age of 34. The motor symptoms of the patient responded well to levodopa therapy. However, the condition progressed to Hoehn and Yahr stage V at age 44, and the patient died of toxic shock syndrome at age 46. Post\u2010mortem neuropathological examination revealed some common features of <jats:italic>SNCA<\/jats:italic> duplication, such as prominent neuronal loss in the substantia nigra and locus coeruleus, and widespread Lewy pathology from the brainstem to the neocortex. Marked Lewy neurites were also observed in the cornu Ammonis 2\/3 region of the hippocampus; however, without apparent neuronal loss. Large Lewy bodies were frequently observed in the tuberomammillary nucleus of the hypothalamus. Additionally, Lewy pathology was frequently visible in the peripheral nervous system, including the sympathetic and dorsal root ganglia. Western blotting revealed bands, and immunoelectron microscopy analyses showed filaments typical of Lewy body disease in the central and peripheral nervous systems. These results show that duplication of the SNCA gene facilitates the formation of Lewy bodies in the central and peripheral nervous systems. These Lewy bodies show the same biochemical profiles as sporadic Lewy body disease.<\/jats:p>","DOI":"10.1111\/neup.70020","type":"journal-article","created":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T02:49:30Z","timestamp":1753152570000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neuropathological and Biochemical Profiles of Lewy Pathology in the Central and Peripheral Nervous Systems of an Autopsy Case of <scp><i>SNCA<\/i><\/scp> Duplication"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8890-2743","authenticated-orcid":false,"given":"Goichi","family":"Beck","sequence":"first","affiliation":[{"name":"Department of Neurology The University of Osaka Graduate School of Medicine  Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6860-6338","authenticated-orcid":false,"given":"Misaki","family":"Yamadera","sequence":"additional","affiliation":[{"name":"Department of Pathology NHO Osaka Toneyama Medical Center  Toyonaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3835-9070","authenticated-orcid":false,"given":"Airi","family":"Tarutani","sequence":"additional","affiliation":[{"name":"Dementia Research Project Tokyo Metropolitan Institute of Medical Science  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9039-2495","authenticated-orcid":false,"given":"Yuki","family":"Yonenobu","sequence":"additional","affiliation":[{"name":"Department of Neurology The University of Osaka Graduate School of Medicine  Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asako","family":"Mike","sequence":"additional","affiliation":[{"name":"Department of Pathology Osaka Keisatsu Hospital  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Hideshima","sequence":"additional","affiliation":[{"name":"Department of Neurology Osaka Keisatsu Hospital  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8531-7645","authenticated-orcid":false,"given":"Hideaki","family":"Kanki","sequence":"additional","affiliation":[{"name":"Department of Neurology Osaka Keisatsu Hospital  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichiro","family":"Maeda","sequence":"additional","affiliation":[{"name":"Department of Neurology The University of Osaka Graduate School of Medicine  Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0216-9787","authenticated-orcid":false,"given":"Kimiko","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Neurology NHO Osaka Toneyama Medical Center  Toyonaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wataru","family":"Satake","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masato","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Dementia Research Project Tokyo Metropolitan Institute of Medical Science  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0874-7542","authenticated-orcid":false,"given":"Hideki","family":"Mochizuki","sequence":"additional","affiliation":[{"name":"Department of Neurology The University of Osaka Graduate School of Medicine  Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9709-5242","authenticated-orcid":false,"given":"Shigeo","family":"Murayama","sequence":"additional","affiliation":[{"name":"Department of Neurology The University of Osaka Graduate School of Medicine  Suita Japan"},{"name":"Department of Neurology and Neuropathology (Brain Bank for Aging Research) Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology  Tokyo Japan"},{"name":"Brain Bank for Neurodevelopmental, Neurological and Psychiatric Disorders, Molecular Research Center for Children's Mental Development, United Graduate School of Child Development The University of Osaka  Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(14)61393\u20103"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1353\u20108020(13)70011\u20107"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(04)17104\u20103"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1090278"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.4.514"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050883"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000299387.59159.db"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2014.994"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2015.09.007"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/pl00007400"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010008\u20100428\u20105"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ensci.2025.100568"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478\u2010018\u20100532\u20102"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20101\u20100716\u20101495\u20102_2"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000187889.17253.b1"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010022\u201002426\u20103"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25518"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20753"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23776"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.10.006"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410030207"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870080310"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.46.6.1693"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2011.01.004"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm090"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024\u2010021\u201000501\u2010z"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.70020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T12:38:09Z","timestamp":1754397489000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/neup.70020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,21]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1111\/neup.70020"],"URL":"https:\/\/doi.org\/10.1111\/neup.70020","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"type":"print","value":"0919-6544"},{"type":"electronic","value":"1440-1789"}],"subject":[],"published":{"date-parts":[[2025,7,21]]},"assertion":[{"value":"2025-05-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70020"}}